De Novo 2q36.3q37.1 Deletion Encompassing and Yields Distinct Phenotypes

Overview

Journal Hum Genome Var

Date 2020 Jun 13

PMID 32528716

Authors

Yuto Kondo

Kohei Aoyama

Hisato Suzuki

Ayako Hattori

Ikumi Hori

Koichi Ito

Aya Yoshida

Mari Koroki

Kentaro Ueda

Kenjiro Kosaki

Shinji Saitoh

Affiliations

Soon will be listed here.

Abstract

We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including and . haploinsufficiency causes developmental delay with isolated dysmorphic facial features, whereas haploinsufficiency causes short stature and small hands. This is the first report of a unique phenotype, which is secondary to a microdeletion encompassing and .

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